Incidental Mutation 'R3828:Rsph6a'
| ID |
273840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsph6a
|
| Ensembl Gene |
ENSMUSG00000040866 |
| Gene Name |
radial spoke head 6 homolog A (Chlamydomonas) |
| Synonyms |
Rshl1, RSP4 |
| MMRRC Submission |
040886-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.074)
|
| Stock # |
R3828 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18788615-18808372 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 18791539 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 236
(L236P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046526
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023882]
[ENSMUST00000035521]
[ENSMUST00000076887]
|
| AlphaFold |
Q8CDR2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023882
|
| SMART Domains |
Protein: ENSMUSP00000023882
Gene: ENSMUSG00000023118
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
106 |
118 |
N/A |
INTRINSIC |
|
Pfam:DUF3453
|
119 |
352 |
1.1e-63 |
PFAM |
|
low complexity region
|
473 |
485 |
N/A |
INTRINSIC |
|
Pfam:Symplekin_C
|
887 |
1068 |
4.3e-78 |
PFAM |
|
low complexity region
|
1123 |
1149 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035521
AA Change: L236P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000046526
Gene: ENSMUSG00000040866
AA Change: L236P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:Radial_spoke
|
191 |
685 |
2.3e-200 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000076887
AA Change: L236P
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000076153
Gene: ENSMUSG00000040866
AA Change: L236P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
42 |
56 |
N/A |
INTRINSIC |
|
Pfam:Radial_spoke
|
188 |
287 |
3e-18 |
PFAM |
|
Pfam:Radial_spoke
|
285 |
433 |
4.6e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130328
|
| SMART Domains |
Protein: ENSMUSP00000115900
Gene: ENSMUSG00000023118
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Symplekin_C
|
1 |
92 |
3.9e-44 |
PFAM |
|
low complexity region
|
125 |
143 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131230
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144991
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148861
|
| Meta Mutation Damage Score |
0.5413 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
100% (34/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a sea urchin radial spoke head protein. Radial spoke protein complexes form part of the axoneme of eukaryotic flagella and are located between the axoneme's outer ring of doublet microtubules and central pair of microtubules. In Chlamydomonas, radial spoke proteins are thought to regulate the activity of dynein and the symmetry of flagellar bending patterns. This gene maps to a region of chromosome 19 that is linked to primary ciliary dyskinesia-2 (CILD2). [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Camk2b |
A |
G |
11: 5,978,932 (GRCm39) |
V32A |
probably damaging |
Het |
| Cbr2 |
A |
T |
11: 120,621,278 (GRCm39) |
H140Q |
probably benign |
Het |
| Cdk19 |
T |
C |
10: 40,351,609 (GRCm39) |
V258A |
probably damaging |
Het |
| Cep104 |
T |
G |
4: 154,069,400 (GRCm39) |
M207R |
probably damaging |
Het |
| Chd2 |
A |
G |
7: 73,141,163 (GRCm39) |
Y577H |
possibly damaging |
Het |
| Col4a1 |
C |
A |
8: 11,259,650 (GRCm39) |
G1341V |
probably damaging |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cplane2 |
C |
T |
4: 140,945,900 (GRCm39) |
R148C |
probably damaging |
Het |
| Cx3cl1 |
A |
T |
8: 95,503,934 (GRCm39) |
|
probably benign |
Het |
| Cxcr6 |
A |
T |
9: 123,639,934 (GRCm39) |
M319L |
probably benign |
Het |
| Dlg5 |
T |
A |
14: 24,196,226 (GRCm39) |
K1308I |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| Ffar2 |
A |
T |
7: 30,519,510 (GRCm39) |
I10N |
possibly damaging |
Het |
| Gm17521 |
C |
A |
X: 121,938,922 (GRCm39) |
G149C |
unknown |
Het |
| Gm5862 |
T |
G |
5: 26,224,345 (GRCm39) |
H208P |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Ino80d |
A |
T |
1: 63,101,237 (GRCm39) |
M463K |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,256,356 (GRCm39) |
P4595S |
probably benign |
Het |
| Mark4 |
A |
G |
7: 19,177,112 (GRCm39) |
I239T |
possibly damaging |
Het |
| Mcoln1 |
C |
T |
8: 3,550,601 (GRCm39) |
A2V |
possibly damaging |
Het |
| Mcts1 |
T |
C |
X: 37,691,445 (GRCm39) |
|
probably benign |
Het |
| Mrgprb5 |
T |
A |
7: 47,817,839 (GRCm39) |
M299L |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,370,938 (GRCm39) |
|
probably benign |
Het |
| Or56a3 |
A |
G |
7: 104,735,504 (GRCm39) |
N194D |
probably benign |
Het |
| Pcdhga4 |
G |
T |
18: 37,820,654 (GRCm39) |
L734F |
possibly damaging |
Het |
| Rrm2 |
G |
T |
12: 24,758,598 (GRCm39) |
A47S |
probably benign |
Het |
| Rtkn2 |
A |
T |
10: 67,833,456 (GRCm39) |
|
probably null |
Het |
| Stk11 |
T |
C |
10: 79,963,782 (GRCm39) |
|
probably null |
Het |
| Syt14 |
T |
C |
1: 192,584,083 (GRCm39) |
N444S |
probably damaging |
Het |
| Tmem59l |
A |
G |
8: 70,939,951 (GRCm39) |
L6S |
unknown |
Het |
| Tnks |
A |
G |
8: 35,340,332 (GRCm39) |
F429L |
probably damaging |
Het |
| Usp15 |
T |
A |
10: 123,032,775 (GRCm39) |
I16F |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,533,500 (GRCm39) |
I244T |
probably benign |
Het |
|
| Other mutations in Rsph6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01060:Rsph6a
|
APN |
7 |
18,788,793 (GRCm39) |
nonsense |
probably null |
|
|
IGL01656:Rsph6a
|
APN |
7 |
18,788,770 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02997:Rsph6a
|
APN |
7 |
18,788,764 (GRCm39) |
missense |
probably benign |
0.32 |
|
R0396:Rsph6a
|
UTSW |
7 |
18,808,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0467:Rsph6a
|
UTSW |
7 |
18,791,594 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0545:Rsph6a
|
UTSW |
7 |
18,788,871 (GRCm39) |
nonsense |
probably null |
|
|
R0603:Rsph6a
|
UTSW |
7 |
18,799,886 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R0848:Rsph6a
|
UTSW |
7 |
18,791,595 (GRCm39) |
missense |
probably benign |
0.07 |
|
R1943:Rsph6a
|
UTSW |
7 |
18,808,001 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Rsph6a
|
UTSW |
7 |
18,802,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3713:Rsph6a
|
UTSW |
7 |
18,791,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3762:Rsph6a
|
UTSW |
7 |
18,789,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3826:Rsph6a
|
UTSW |
7 |
18,791,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3827:Rsph6a
|
UTSW |
7 |
18,791,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4355:Rsph6a
|
UTSW |
7 |
18,801,003 (GRCm39) |
splice site |
probably null |
|
|
R4429:Rsph6a
|
UTSW |
7 |
18,807,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4524:Rsph6a
|
UTSW |
7 |
18,799,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4799:Rsph6a
|
UTSW |
7 |
18,799,783 (GRCm39) |
nonsense |
probably null |
|
|
R4896:Rsph6a
|
UTSW |
7 |
18,791,665 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4906:Rsph6a
|
UTSW |
7 |
18,801,997 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5004:Rsph6a
|
UTSW |
7 |
18,791,665 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5637:Rsph6a
|
UTSW |
7 |
18,788,820 (GRCm39) |
missense |
probably benign |
|
|
R6066:Rsph6a
|
UTSW |
7 |
18,799,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7013:Rsph6a
|
UTSW |
7 |
18,788,820 (GRCm39) |
missense |
probably benign |
|
|
R7193:Rsph6a
|
UTSW |
7 |
18,799,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Rsph6a
|
UTSW |
7 |
18,801,962 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8170:Rsph6a
|
UTSW |
7 |
18,791,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8177:Rsph6a
|
UTSW |
7 |
18,808,164 (GRCm39) |
missense |
unknown |
|
|
R8956:Rsph6a
|
UTSW |
7 |
18,799,364 (GRCm39) |
intron |
probably benign |
|
|
R9032:Rsph6a
|
UTSW |
7 |
18,799,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9085:Rsph6a
|
UTSW |
7 |
18,799,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9222:Rsph6a
|
UTSW |
7 |
18,801,986 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9529:Rsph6a
|
UTSW |
7 |
18,799,535 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9654:Rsph6a
|
UTSW |
7 |
18,799,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9672:Rsph6a
|
UTSW |
7 |
18,799,842 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Rsph6a
|
UTSW |
7 |
18,799,856 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTGTGTGTCCCTAGCACTAG -3'
(R):5'- GCTGTTCACACCTTAGCACTG -3'
Sequencing Primer
(F):5'- CTGTGTGTCCCTAGCACTAGAAAAAG -3'
(R):5'- CACTGGCTTTGGCATAGGC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation